scholarly journals A WIDESPREAD SILENT POLYMORPHISM OF HUMAN CARBONIC ANHYDRASE III (31 ILE ↔ VAL): IMPLICATIONS FOR EVOLUTIONARY GENETICS

Genetics ◽  
1983 ◽  
Vol 105 (2) ◽  
pp. 409-420
Author(s):  
David Hewett-Emmett ◽  
Rosalind J Welty ◽  
Richard E Tashian

ABSTRACT During amino acid sequence studies of carbonic anhydrase (CA) III, purified from a pool of human skeletal muscles, an electrophoretically undetectable (silent) variation was found at residue 31 which was either valine and/or isoleucine. To distinguish a simple allelic polymorphism from more complex models involving gene duplication, 11 separate CA III samples were purified from individuals of different age and racial backgrounds. Peptide mapping by high performance liquid chromatography and sequencing indicated that four were homozygous for 31-Val, three homozygous for 31-Ile and four were apparent heterozygotes. Since the ratio of Val/Ile at residue 31 was approximately 1.0 in the heterozygotes, the present observations are consistent with a simple allelic polymorphism model. Despite the small sample size, there are preliminary indications that the gene frequencies may differ among racial groups. The finding of this silent allelic polymorphism together with the finding of an electrophoretically detectable polymorphism of CA II permits us to test the linkage of the CA II and CA III genes which appear to have been formed by gene dupliction more than 300 million years ago. The possibility that the Val/Ile variation may represent a neutral mutation is discussed.

2014 ◽  
Vol 889-890 ◽  
pp. 1065-1068
Author(s):  
Yu’e Lin ◽  
Xing Zhu Liang ◽  
Hua Ping Zhou

In the recent years, the feature extraction algorithms based on manifold learning, which attempt to project the original data into a lower dimensional feature space by preserving the local neighborhood structure, have drawn much attention. Among them, the Marginal Fisher Analysis (MFA) achieved high performance for face recognition. However, MFA suffers from the small sample size problems and is still a linear technique. This paper develops a new nonlinear feature extraction algorithm, called Kernel Null Space Marginal Fisher Analysis (KNSMFA). KNSMFA based on a new optimization criterion is presented, which means that all the discriminant vectors can be calculated in the null space of the within-class scatter. KNSMFA not only exploits the nonlinear features but also overcomes the small sample size problems. Experimental results on ORL database indicate that the proposed method achieves higher recognition rate than the MFA method and some existing kernel feature extraction algorithms.


2019 ◽  
Vol 48 (4) ◽  
pp. 866-879
Author(s):  
Galina Boiarintseva ◽  
Julia Richardson

PurposeThe purpose of this paper is to theorize men’s experiences of work-life balance in male-dominated, high-performance industries.Design/methodology/approachThis study provides an in-depth qualitative study comprising interviews and informal conversations with male lawyers in Canada.FindingsThis study highlights the socially constructed nature of male lawyers’ experiences of work-life balance and the recursive impact of industry, professional and societal expectations and norms.Research limitations/implicationsA relatively small sample size, suggesting the need for further study with a larger and more diverse sample. The study was conducted in Canada – other national contexts may furnish different results.Practical implicationsThis study identifies the need for greater awareness of how institutional, professional and societal expectations and norms impact on men’s experiences of work-life balance in male-dominated, high-performance industries.Social implicationsThis paper indicates that greater attention needs to be paid to work-life balance among men in male-dominated, high-performance industries.Originality/valueThis paper explores men’s experiences of work-life balance in a male-dominated industry within an interpretivist paradigm.


2020 ◽  
Vol 7 (2) ◽  
pp. 52-57
Author(s):  
Roxana Gabriela Chiș ◽  
Florentina Mușat ◽  
Georgiana Radu ◽  
O. Andronic ◽  
D. Ion ◽  
...  

The human body can be envisioned as a high-performance machine that operates on the principle of "gears". As a consequence, any disorder at a certain level might lead to imbalances in other areas, which are sometimes difficult to detect and measure. One such relationship between two seemingly unrelated systems is that of abdominal surgery and intraocular pressure. The literature on this subject is poor, but available research suggests the occurrence of a change in intraocular pressure in the context of abdominal surgery. The present study analyzed the variation of intraocular pressure for two groups of patients who underwent classical or laparoscopic cholecystectomy. The present research is based on a prospective, non-interventional, observational, descriptive study, carried out in the IIIrd General Surgery Clinic of the University Emergency Hospital, Bucharest. The study included patients who underwent abdominal surgery during January 2018 - December 2019. The study gathered a total of 67 patients, separated into two groups: 52 patients who underwent laparoscopic cholecystectomy and 15 who underwent open cholecystectomy. No definite relationship between intra-abdominal pressure and intraocular pressure was found in the analyzed group, probably due to the small sample size, but further research is encouraged.


Author(s):  
Bhaskar V. K. S. Lakkakula ◽  
Smaranika Pattnaik

AbstractSickle cell anemia (SCA) is a severe disease characterized by anemia, acute clinical complications, and a relatively short life span. In this disease, abnormal hemoglobin makes the red blood cells deformed, rigid, and sticky. Fetal hemoglobin (HbF) is one of the key modulators of SCA morbidity and mortality. Interindividual HbF variation is a heritable trait that is controlled by polymorphism in genes linked and unlinked to the hemoglobin β gene (HBB). The genetic polymorphisms that determine HbF levels are known to ameliorate acute clinical events. About 190 well-characterized homozygous SCA patients were included in this study. Complete blood count (CBC), high-performance liquid chromatography (HPLC), and clinical investigations were obtained from patient's records. Severity scores were determined by using the combination of anemia, complications, total leucocyte count, and transfusion scores. HBG2 rs7482144 polymorphism was genotyped by using the polymerase chain reaction and restriction fragment length polymorphism. The association between HBG2 rs7482144 polymorphism and HbF levels as well as the disease severity of SCA were assessed. SCA patients carrying TT genotype were found to have higher HbF levels. In addition, SCA patients with increased severity showed significantly lower levels of hemoglobin, HbF, and hematocrit values. However, the genotypes of HBG2 rs7482144 polymorphism were not found to be associated with the risk of disease severity. In summary, this study demonstrated that HBG2 rs7482144 polymorphism is linked with HbF levels, but it does not affect disease severity. The sample sizes used and the pattern of association deduced from our small sample size prevents us from extrapolating our findings further.


2012 ◽  
Vol 9 (1) ◽  
pp. 13-18 ◽  
Author(s):  
AK Kumar Hemanth ◽  
V Sudha ◽  
G Ramachandran

Introduction: Treatment of tuberculosis (TB) requires a combination of drugs. Isoniazid (INH) and pyrazinamide (PZA) are key components of the fi rst-line regimen used in the treatment of TB and monitoring these drug levels in plasma would help in better patient care. The objective of the study is to develop and validate a simple and rapid high performance liquid chromatographic method for simultaneous determination of INH and PZA in human plasma. Methodology: The method involved deproteinisation of plasma with para hydroxy benzaldehyde and trifl uoroacetic acid and analysis using a reversed-phase C8 column and UV detection at 267nm. The fl ow rate was set at 1.5 ml/min at ambient temperature. The accuracy, linearity, precision, specifi city, stability and recovery of the method were evaluated. The method was applied to estimate plasma INH and PZA collected from six children with TB. Results: Well resolved peaks of PZA and INH at retention times of 3.2 and 6.1 minutes respectively were obtained. The assay was linear from 0.25 - 10.0 ìg/ml for INH and 1.25 – 50.0 ìg/ml for PZA. The within-day and between-day relative standard deviation for standards were below 10%. The average recoveries of INH and PZA from plasma were 104 and 102% respectively. Conclusions: A rapid and accurate method for simultaneous determination of INH and PZA in plasma was validated. The assay spans the concentration range of clinical interest. The easy sample preparation and small sample size makes this assay highly suitable for pharmacokinetic studies of INH and PZA in TB patients. SAARC Journal of Tuberculosis, Lung Diseases & HIV/AIDS 2012; IX (1) 13-18 DOI: http://dx.doi.org/10.3126/saarctb.v9i1.6960


Foods ◽  
2021 ◽  
Vol 10 (9) ◽  
pp. 2019
Author(s):  
Manuel León-Camacho ◽  
María del Carmen Pérez-Camino

The unsaponifiable fraction of oils and fats constitutes a very small fraction but it is an essential part of the healthy properties of some specific oils. It is a complex fraction formed by a large number of minor compounds and it is a source of information to characterize and authenticate the oil sample. Specially, the composition of sterols of any oil or fat is a distinctive feature of itself and, therefore, it has become a useful tool for detecting contaminants and adulterants in oils. A new supported liquid extraction (SLE) technique for the analysis and characterization of the unsaponifiable fraction of fats and oils is proposed. The SLE system includes, as a stationary phase, a combination of adsorbent materials which allow a highly purified unsaponifiable matter ready to be isolated by high performance liquid chromatography (HPLC) and quantified by gas chromatography (GC). This method ensures the removal of fatty acids, avoiding possible interferences and making the analysis of sterols and triterpenic dialcohols easier. The procedure uses a small sample size (0.2 g), reduces the volume of solvents and reagents, and reduces the handling of samples subjected to analytical control. All this is achieved without losing either precision—a relative standard deviation of each compound lower than the reference value (≤16.4%)—or recovery, being for all compounds higher than 88.00%. Therefore, this new technique represents a significant economic and time saving in business control laboratories, a larger productivity and enhancement of working safety.


2012 ◽  
Vol 468-471 ◽  
pp. 1203-1206
Author(s):  
Yue Lin ◽  
Jing Zhao Li ◽  
Xing Zhu Liang

The recently proposed Marginal Fisher Analysis (MFA) achieved high performance for face recognition. However, MFA suffers from the small sample size problem and the optimal basis vectors obtained by the MFA are nonorthogonal. In this paper, we present a new method called Direct Orthogonal Marginal Fisher Analysis (DOMFA), which is able to extract all the orthogonal discriminant vectors simultaneously in the high-dimensional feature space without pre-processing using PCA and does not suffer the small sample size problem. Experimental results on ORL database indicate that the proposed DOMFA method achieves better recognition rate than the MFA method and some other orthogonal feature extraction algorithms.


Author(s):  
Conly L. Rieder ◽  
S. Bowser ◽  
R. Nowogrodzki ◽  
K. Ross ◽  
G. Sluder

Eggs have long been a favorite material for studying the mechanism of karyokinesis in-vivo and in-vitro. They can be obtained in great numbers and, when fertilized, divide synchronously over many cell cycles. However, they are not considered to be a practical system for ultrastructural studies on the mitotic apparatus (MA) for several reasons, the most obvious of which is that sectioning them is a formidable task: over 1000 ultra-thin sections need to be cut from a single 80-100 μm diameter egg and of these sections only a small percentage will contain the area or structure of interest. Thus it is difficult and time consuming to obtain reliable ultrastructural data concerning the MA of eggs; and when it is obtained it is necessarily based on a small sample size.We have recently developed a procedure which will facilitate many studies concerned with the ultrastructure of the MA in eggs. It is based on the availability of biological HVEM's and on the observation that 0.25 μm thick serial sections can be screened at high resolution for content (after mounting on slot grids and staining with uranyl and lead) by phase contrast light microscopy (LM; Figs 1-2).


Crisis ◽  
2020 ◽  
pp. 1-5
Author(s):  
Ruthmarie Hernández-Torres ◽  
Paola Carminelli-Corretjer ◽  
Nelmit Tollinchi-Natali ◽  
Ernesto Rosario-Hernández ◽  
Yovanska Duarté-Vélez ◽  
...  

Abstract. Background: Suicide is a leading cause of death among Spanish-speaking individuals. Suicide stigma can be a risk factor for suicide. A widely used measure is the Stigma of Suicide Scale-Short Form (SOSS-SF; Batterham, Calear, & Christensen, 2013 ). Although the SOSS-SF has established psychometric properties and factor structure in other languages and cultural contexts, no evidence is available from Spanish-speaking populations. Aim: This study aims to validate a Spanish translation of the SOSS-SF among a sample of Spanish-speaking healthcare students ( N = 277). Method: We implemented a cross-sectional design with quantitative techniques. Results: Following a structural equation modeling approach, a confirmatory factor analysis (CFA) supported the three-factor model proposed by Batterham and colleagues (2013) . Limitations: The study was limited by the small sample size and recruitment by availability. Conclusion: Findings suggest that the Spanish version of the SOSS-SF is a valid and reliable tool with which to examine suicide stigma among Spanish-speaking populations.


Crisis ◽  
2020 ◽  
pp. 1-7
Author(s):  
Brooke A. Ammerman ◽  
Sarah P. Carter ◽  
Heather M. Gebhardt ◽  
Jonathan Buchholz ◽  
Mark A. Reger

Abstract. Background: Patient disclosure of prior suicidal behaviors is critical for effectively managing suicide risk; however, many attempts go undisclosed. Aims: The current study explored how responses following a suicide attempt disclosure may relate to help-seeking outcomes. Method: Participants included 37 veterans with a previous suicide attempt receiving inpatient psychiatric treatment. Veterans reported on their most and least helpful experiences disclosing their suicide attempt to others. Results: Veterans disclosed their suicide attempt to approximately eight individuals. Mental health professionals were the most cited recipient of their most helpful disclosure; romantic partners were the most common recipient of their least helpful disclosures. Positive reactions within the context of the least helpful disclosure experience were positively associated with a sense of connection with the disclosure recipient. Positive reactions within the most helpful disclosure experience were positively associated with the likelihood of future disclosure. No reactions were associated with having sought professional care or likelihood of seeking professional care. Limitations: The results are considered preliminary due to the small sample size. Conclusion: Findings suggest that while positive reactions may influence suicide attempt disclosure experiences broadly, additional research is needed to clarify factors that drive the decision to disclose a suicide attempt to a professional.


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